Canonical Allele Identifier: CA396267806

Gene: LRRC36

Linked Data

• gnomAD v4: 16-67375257-G-C
• MyVariant Identifiers: chr16:g.67409160G>C (hg19) ; chr16:g.67375257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375257G>C , CM000678.2:g.67375257G>C	GRCh38
NC_000016.9:g.67409160G>C , CM000678.1:g.67409160G>C	GRCh37
NC_000016.8:g.65966661G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1505G>C MANE Select	ENSP00000329943.6:p.Ser502Thr
ENST00000329956.10:c.1505G>C	ENSP00000329943.6:p.Ser502Thr
ENST00000435835.3:c.1132-3332G>C	ENSP00000411122.3:n.1132-3332G>C
ENST00000563189.5:c.1142G>C	ENSP00000455103.1:p.Ser381Thr
ENST00000565019.6:c.1072-58G>C
ENST00000567723.5:c.*831G>C	ENSP00000455799.1:n.*831G>C
ENST00000567823.5:c.225G>C	ENSP00000456164.1:p.Ter75Tyr
ENST00000568010.5:c.*246-1G>C	ENSP00000455018.1:n.*246-1G>C
NM_001161575.1:c.1142G>C	NP_001155047.1:p.Ser381Thr
NM_018296.5:c.1505G>C	NP_060766.5:p.Ser502Thr
XM_005256025.2:c.1505G>C	XP_005256082.1:p.Ser502Thr
XM_005256026.2:c.1064G>C	XP_005256083.1:p.Ser355Thr
XM_005256027.2:c.1505G>C	XP_005256084.1:p.Ser502Thr
XM_005256028.1:c.1001G>C	XP_005256085.1:p.Ser334Thr
XM_011523199.1:c.1505G>C	XP_011521501.1:p.Ser502Thr
XM_011523200.1:c.1505G>C	XP_011521502.1:p.Ser502Thr
XM_011523201.1:c.1001G>C	XP_011521503.1:p.Ser334Thr
XM_011523202.1:c.998G>C	XP_011521504.1:p.Ser333Thr
XM_011523203.1:c.887G>C	XP_011521505.1:p.Ser296Thr
XM_011523204.1:c.779G>C	XP_011521506.1:p.Ser260Thr
XM_011523205.1:c.779G>C	XP_011521507.1:p.Ser260Thr
XR_243416.2:n.1524G>C
XR_429723.1:n.1514-1G>C
XM_011523202.2:c.998G>C	XP_011521504.1:p.Ser333Thr
XM_017023400.2:c.1505G>C	XP_016878889.1:p.Ser502Thr
XM_017023401.1:c.755-1G>C	XP_016878890.1:n.755-1G>C
XM_017023402.1:c.578-1G>C	XP_016878891.1:n.578-1G>C
XM_024450338.1:c.779G>C	XP_024306106.1:p.Ser260Thr
NM_018296.6:c.1505G>C MANE Select	NP_060766.5:p.Ser502Thr
NM_001161575.2:c.1142G>C	NP_001155047.1:p.Ser381Thr